hrp0086p1-p923 | Thyroid P1 | ESPE2016

Small Thyroid Volume on Ultrasound in Infants with Transient TSH Elevation Following Referral by Newborn Screening

Mansour Chourouk , Jones Jeremy , Green Morag , Stenhouse Emily , Irwin Greg , Donaldson Malcolm

Background: Infants referred with elevation of capillary TSH on newborn screening are classified as having transient TSH elevation when subsequently found to have normal venous thyroid function tests off treatment with thyroxine. Causes of transient TSH elevation include neonatal sickness, prematurity and maternal thyroid antibodies. There is little information on thyroid size in such infants.Objective: To determine thyroid volume by ultrasound in infant...

hrp0082p1-d1-142 | Growth | ESPE2014

Parental Gonadal Mosaicism for a BRAF Mutation in Cardiofaciocutaneous Syndrome

Geoghegan Sarah , Morrissey Rose , Shorto Jeniffer , Ramsden Simon , O'Riordan Stephen , Green Andrew , O'Connell Susan

Background: Cardiofaciocutaneous syndrome (CFCS) is a rare autosomal dominant (AD) condition characterized by cardiac abnormalities, a distinctive craniofacial appearance and short stature. Endocrine manifestations include GH deficiency and precocious puberty. CFCS is part of the RASopathy group including Noonan, LEOPARD, and Costello syndromes. The four associated genes are BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%). Most individuals represent new sporadic muta...

hrp0082p2-d3-480 | Hypoglycaemia | ESPE2014

The Role of Plasma C-Peptide Concentration in the Diagnosis of Congenital Hyperinsulinism

Green Julie , Giri Dinesh , Gangadharan Arundoss , Blair Jo , Dharmaraj Poonam , Das Urmi , Senniappan Senthil , Didi Mohammed

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p2-d3-619 | Turner Syndrome | ESPE2014

A Child with Clinical and Cytogenetic Features of Male Edward Syndrome and Turner Syndrome with Bilateral Gonadoblastoma in Infancy

MacMahon J , Morrissey R , McDermott M , Quinn F , Green A , Lynch SM

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0086p1-p338 | Gonads &amp; DSD P1 | ESPE2016

Primary Ovarian Insufficiency in Childhood Cancer Survivors: A Report from the St Jude Lifetime Cohort (SJLIFE)

Chemaitilly Wassim , Li Zhenghong , Krasin Matthew , Wilson Carmen , Green Daniel , Klosky James , Barnes Nicole , Clark Karen , Frenandez-Pineda Israel , Metzger Monika , Ching-Hon Pui , Kirsten Ness , Kumar Srivastava Deo , Robison Leslie , Hudson Melissa , Sklar Charles , Yasui Yutaka

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

hrp0092p2-215 | Multisystem Endocrine Disorders | ESPE2019

Intestinal Ganglioneuromatosis as First Manifestation of Multiple Endocrine Neoplasia 2B in a Premature Girl

Leunbach Tina Lund , Madsen Mette , Nielsen Rasmus G , Hansen Dorthe , Mathiesen Jes S

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

hrp0089p2-p391 | Thyroid P2 | ESPE2018

Application of Elastography in Assesment of Different Benign Thyroid Lesions in Children and Adolescents

Borysewicz-Sańczyk Hanna , Dzięcioł Janusz , Sawicka Beata , Florczykowska Patrycja , Przychodzen Małgorzata , Bossowski Artur

Introduction: Elastography is a noninvasive imaging technique based on estimation of the tissue flexibility. There are two methods of elastography: Static Elastography and Shear Wave Elastography. Scale of deformation under pressure is presented as a colourful map – elastogram, where red colour signify soft tissues, green colour signify middle tough tissues and blue colour signify tough tissues. Analysis of elastograms enable us to present results as ROI1/ROI2 index. In a...

hrp0086p1-p129 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Trabecular Bone Score in Children from Mexico City: Preliminary Report

Angel Guagnelli Miguel , Gomez-Diaz Rita , Ambrosi Regina , Winzenrieth Renaud , Clark Patricia

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...